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Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line

التفاصيل البيبلوغرافية
العنوان: Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line
المؤلفون: Natascia Malerba, Patrizia Benzoni, Gabriella Maria Squeo, Raffaella Milanesi, Federica Giannetti, Lynette G. Sadleir, Gemma Poke, Bartolomeo Augello, Anna Irma Croce, Andrea Barbuti, Giuseppe Merla
المصدر: Stem Cell Research, Vol 40, Iss , Pp - (2019)
بيانات النشر: Elsevier, 2019.
سنة النشر: 2019
المجموعة: LCC:Biology (General)
مصطلحات موضوعية: Biology (General), QH301-705.5
الوصف: GNB5 loss-of-function pathogenic variants cause IDDCA, a rare autosomal recessive human genetic disease characterized by infantile onset of intellectual disability, sinus bradycardia, hypotonia, visual abnormalities, and epilepsy. We generated human induced pluripotent stem cells (hiPSCs) from skin fibroblasts of a patient with the homozygous c.136delG frameshift variant, and a GNB5 knock-out (KO) line by CRISPR/Cas9 editing. hiPSCs express common pluripotency markers and differentiate into the three germ layers. These lines represent a powerful cellular model to study the molecular basis of GNB5-related disorders as well as offer an in vitro model for drug screening.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1873-5061
49828673
Relation: http://www.sciencedirect.com/science/article/pii/S1873506119301771; https://doaj.org/toc/1873-5061
DOI: 10.1016/j.scr.2019.101547
URL الوصول: https://doaj.org/article/7e6ca3fb95ff4982867323666b32b676
رقم الأكسشن: edsdoj.7e6ca3fb95ff4982867323666b32b676
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:18735061
49828673
DOI:10.1016/j.scr.2019.101547